Mild androgen insensitivity syndrome due to novel mutation in androgen receptor gene

E. Ivannikova; L. Dzeranova; L. Kurilo; A. Polyakov; V. Chernykh; E. Pigarova

P1064

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Endocrine Abstracts (2012) 29 P1064

ICEECE2012 Poster Presentations Male Reproduction (63 abstracts)

Mild androgen insensitivity syndrome due to novel mutation in androgen receptor gene

E. Ivannikova ¹ , L. Dzeranova ¹ , L. Kurilo ² , A. Polyakov ² , V. Chernykh ² & E. Pigarova ¹

Err

Author affiliations

¹Endocrinology Research Centre, Moscow, Russian Federation; ²Research Center for Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation.

We describe a clinical case of the patient with the syndrome of partial resistance to androgens. The patient, a man 25 years old, complained of a barren marriage. Lab and clinical findings included high gonadotropin and testosterone levels, hypogonadal appearance, coronal hypospadias, left-sided varicocele, oligoastenotheratozoospermia. The results of cytogenetic analysis showed a normal male karyotype (46, XY). Molecular genetic studies identified mutation in exon 1 of androgen receptor gene – s.731_736delCGGTGT, which allowed a precise diagnosis – Reifenstein syndrome.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.